Search results for "Var"

showing 10 items of 14701 documents

Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error

2016

Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium performs a joint meta-analysis to test single-nucleotide polymorphism (SNP) main effects and SNP × education interaction effects on refractive error in 40,036 adults from 25 studies of European ancestry and 10,315 adults from 9 studies of Asian ancestry. In European ancestry individuals, we identify six novel loci (FAM150B-ACP1, LINC00340, FBN1, DIS3L-MAP2K1, ARID2-SNAT1 and SLC14A2) associated with refractive error. In Asian populations, three genome-wide significant loci AREG…

0301 basic medicineRefractive errorgenetic structuresGeneral Physics and AstronomyGenome-wide association studyVARIANTSrefractive error ; geneEYEBioinformaticsINCIDENT MYOPIAGenome-wide association studiesSensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]0302 clinical medicinePolymorphism (computer science)10. No inequalityPOPULATIONeducation.field_of_studyMultidisciplinaryQACTIVATED PROTEIN-KINASEta3142single-nucleotide polymorphismRETINAL-PIGMENT EPITHELIUMOUTDOOR ACTIVITY3142 Public health care science environmental and occupational health3. Good healthRefractive errorsMeta-analysislociEducational StatusSciencePopulation610 Medicine & healthEnvironmentBiologyta3111Polymorphism Single NucleotideArticleWhite PeopleGeneral Biochemistry Genetics and Molecular BiologyEducation03 medical and health sciencesAsian PeopleSDG 3 - Good Health and Well-beingGenetic variationmedicineHumansSNPGenetic Predisposition to Diseasemyopia3125 Otorhinolaryngology ophthalmologyGenetic variationeducationRECEPTORGene Expression Profilingta1184General ChemistryHeritabilitymedicine.diseaseeye diseasesta3125TIME OUTDOORS030104 developmental biologyGenetic LociEvolutionary biologyRISK-FACTORS030221 ophthalmology & optometryREsense organs3111 BiomedicineGenome-Wide Association StudyNature Communications
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Innovations in assisted reproductive technologies: impact on contemporary donor egg practice and future advances.

2018

Innovations in assisted reproductive technologies (ART) have driven progress in the donor egg field since the birth of the first baby derived from a donor egg in 1983. Over time, donor oocytes have become an increasingly used option for patients unable to conceive with autologous oocytes. In donor egg, the unique separation of the oocyte source and recipient uterus has created a model that has propelled advances in ART. Progressive ART innovations that have optimized the oocyte donor and resulting embryo include the following: evaluation of ovarian reserve, controlled ovarian hyperstimulation regimens that reduce the risk of ovarian hyperstimulation syndrome, blastocyst culture, oocyte cryo…

0301 basic medicineReproductive Techniques Assistedmedicine.medical_treatmentOvarian hyperstimulation syndromeReproductive technologyControlled ovarian hyperstimulationAndrologyEmbryo Culture Techniques03 medical and health sciences0302 clinical medicineInventionsMedicineHumansBlastocystOvarian reserveOvarian Reserve030219 obstetrics & reproductive medicineAssisted reproductive technologyOocyte Donationbusiness.industryObstetrics and GynecologyOocyte cryopreservationmedicine.diseaseOocyte030104 developmental biologymedicine.anatomical_structureReproductive MedicineFemalebusinessForecastingFertility and sterility
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Invariant NKT Cells and Rheumatic Disease: Focus on Primary Sjogren Syndrome.

2019

Primary Sjogren syndrome (pSS) is a complex autoimmune disease mainly affecting salivary and lacrimal glands. Several factors contribute to pSS pathogenesis; in particular, innate immunity seems to play a key role in disease etiology. Invariant natural killer (NK) T cells (iNKT) are a T-cell subset able to recognize glycolipid antigens. Their function remains unclear, but studies have pointed out their ability to modulate the immune system through the promotion of specific cytokine milieu. In this review, we discussed the possible role of iNKT in pSS development, as well as their implications as future markers of disease activity.

0301 basic medicineReviewmedicine.disease_causeSalivary GlandsAutoimmunitylcsh:ChemistryPathogenesis0302 clinical medicinecytokineSjogren syndromelcsh:QH301-705.5innate immunitySpectroscopyautoimmunityLacrimal ApparatusGeneral MedicineNatural killer T cellComputer Science ApplicationsSjogren's SyndromeiNKTCatalysisInorganic Chemistry03 medical and health sciencesGlycolipidImmune systemAntigenstomatognathic systemRheumatic DiseasesmedicineAnimalsHumansPhysical and Theoretical ChemistryMolecular Biology030203 arthritis & rheumatologyAutoimmune diseaseInnate immune systembusiness.industryOrganic Chemistrymedicine.diseaseImmunity InnatecytokinesSettore MED/16 - Reumatologiastomatognathic diseases030104 developmental biologylcsh:Biology (General)lcsh:QD1-999ImmunologyNatural Killer T-CellsGlycolipidsbusinessInternational journal of molecular sciences
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Enterococcus hirae and Barnesiella intestinihominis Facilitate Cyclophosphamide-Induced Therapeutic Immunomodulatory Effects.

2016

International audience; The efficacy of the anti-cancer immunomodulatory agent cyclophosphamide (CTX) relies on intestinal bacteria. How and which relevant bacterial species are involved in tumor immunosurveillance, and their mechanism of action are unclear. Here, we identified two bacterial species, Enterococcus hirae and Barnesiella intestinihominis that are involved during CTX therapy. Whereas E. hirae translocated from the small intestine to secondary lymphoid organs and increased the intratumoral CD8/ Treg ratio, B. intestinihominis accumulated in the colon and promoted the infiltration of IFN-gamma-producing gamma delta Tau cells in cancer lesions. The immune sensor, NOD2, limited CTX…

0301 basic medicineRichnessNod2 Signaling Adaptor Proteinmedicine.disease_causeMice0302 clinical medicineEnterococcus hiraeNOD2NeoplasmsIntestine Small[ SDV.IMM ] Life Sciences [q-bio]/ImmunologyImmunology and AllergyGut MicrobiotaCancerbiology3. Good healthImmunosurveillanceInfectious Diseases030220 oncology & carcinogenesisBarnesiella intestinihominis[SDV.IMM]Life Sciences [q-bio]/ImmunologyImmunotherapymedicine.symptomInfectionmedicine.drugCyclophosphamideColonImmunologyTranslocationInflammation03 medical and health sciencesInterferon-gammaImmune systemMonitoring ImmunologicmedicineAnimalsImmunologic FactorsCyclophosphamideInflammationEnterococcus hiraeAntitumor ImmunityBacteriaDendritic CellsTh1 Cellsmedicine.diseasebiology.organism_classificationMice Inbred C57BL030104 developmental biologyIntestinal MicrobiotaImmunologyOvarian cancerImmunologic MemoryImmunity
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The Absence of HIF-1α Increases Susceptibility to Leishmania donovani Infection via Activation of BNIP3/mTOR/SREBP-1c Axis

2020

Summary: Hypoxia-inducible factor-1 alpha (HIF-1α) is considered a global regulator of cellular metabolism and innate immune cell functions. Intracellular pathogens such as Leishmania have been reported to manipulate host cell metabolism. Herein, we demonstrate that myeloid cells from myeloid-restricted HIF-1α-deficient mice and individuals with loss-of-function HIF1A gene polymorphisms are more susceptible to L. donovani infection through increased lipogenesis. Absence of HIF-1α leads to a defect in BNIP3 expression, resulting in the activation of mTOR and nuclear translocation of SREBP-1c. We observed the induction of lipogenic gene transcripts, such as FASN, and lipid accumulation in inf…

0301 basic medicineSREBP-1cHIF1A Gene[SDV]Life Sciences [q-bio]Leishmania donovaniHIF-1αGeneral Biochemistry Genetics and Molecular BiologyMitochondrial Proteins03 medical and health sciences0302 clinical medicinevisceral leishmaniasisAnimalsHumansMyeloid Cellslcsh:QH301-705.5GenelipogenesisPI3K/AKT/mTOR pathwayDisease ResistanceMice Inbred BALB CInnate immune systembiologyIntracellular parasiteLipogenesisMacrophagesTOR Serine-Threonine KinasesGenetic VariationMembrane Proteinsbiology.organism_classificationLeishmaniaHypoxia-Inducible Factor 1 alpha SubunitFASNLipidsmacrophages3. Good healthCell biologyUp-RegulationMice Inbred C57BL030104 developmental biologylcsh:Biology (General)myeloid cellsLipogenesisLeishmaniasis VisceralDisease SusceptibilityacetateSterol Regulatory Element Binding Protein 1030217 neurology & neurosurgeryLeishmania donovaniSignal Transduction
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Contrasting coping styles meet the wall: A dopamine driven dichotomy in behavior and cognition

2017

Individual variation in the ability to modify previously learned behaviour is an important dimension of trait correlations referred to as coping styles, behavioral syndromes or personality. These trait clusters have been shaped by natural selection, and underlying control mechanisms are often conserved throughout vertebrate evolution. In teleost fishes, behavioral flexibility and coping style have been studied in the high (HR) and low-responsive (LR) rainbow trout lines. Generally, proactive LR trout show a behaviour guided by previously learned routines, while HR trout show a more flexible behaviour relying on environmental cues. In mammals, routine dependent vs flexible behavior has been …

0301 basic medicineSTRESSNEUROSCIENCESTELEOST FISHESFLEXIBILITYRAINBOW-TROUTINDIVIDUAL VARIATIONteleostsAmygdalacognitive flexibilitylcsh:RC321-571Developmental psychology03 medical and health sciencesBehavioral syndrome0302 clinical medicineLimbic systemmonoamineslimbic systembiology.animalNeuroplasticitymedicine14. Life underwaterlcsh:Neurosciences. Biological psychiatry. NeuropsychiatryOriginal ResearchbiologyDANIO-RERIOGeneral NeuroscienceCognitive flexibilityVertebrateNEURAL PLASTICITYbiology.organism_classificationRECEPTORSAMYGDALATrout030104 developmental biologymedicine.anatomical_structurepersonalityANIMAL PERSONALITIESRainbow troutNeuroscience030217 neurology & neurosurgeryNeuroscience
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Correlation between work impairment, scores of rhinitis severity and asthma using the MASK-air ® App

2020

Background: In allergic rhinitis, a relevant outcome providing information on the effectiveness of interventions is needed. In MASK-air (Mobile Airways Sentinel Network), a visual analogue scale (VAS) for work is used as a relevant outcome. This study aimed to assess the performance of the work VAS work by comparing VAS work with other VAS measurements and symptom-medication scores obtained concurrently. Methods: All consecutive MASK-air users in 23 countries from 1 June 2016 to 31 October 2018 were included (14 189 users; 205 904 days). Geolocalized users self-assessed daily symptom control using the touchscreen functionality on their smart phone to click on VAS scores (ranging from 0 to 1…

0301 basic medicineSYMPTOMSSmart phoneAllergyEscala visual analógicaINNOVATION[SDV]Life Sciences [q-bio]Medical and Health SciencesCorrelationvisual analogue scale0302 clinical medicineQuality of lifeVisual analogue scaleQUALITY-OF-LIFEMàscaresImmunology and AllergyscoreNoseRinitisRhinitisPRODUCTIVITY COSTSasthma; MASK; rhinitis; score; visual analogue scaleScoreExplained variationResponse VariabilityMobile ApplicationsALLERGIC RHINITISrhinitimedicine.anatomical_structureTRIALSRinite1107 Immunology[SDV.IMM]Life Sciences [q-bio]/ImmunologySmartphonemedicine.medical_specialtyMASKVisual analogue scaleMASK study groupImmunologyMACVIA-ARIA03 medical and health sciencesAllergicrhinitismedicineHumansvisual analogue scale.TECHNOLOGYIMMUNOTHERAPYAsmaAsthmabusiness.industryasthma; MASK; rhinitis; score; visual analogue scale; Humans; Smartphone; Asthma; Mobile Applications; Rhinitis; Rhinitis Allergicasthmamedicine.diseaseRhinitis AllergicAsthmaRHINOCONJUNCTIVITIS030104 developmental biology030228 respiratory system3121 General medicine internal medicine and other clinical medicinePhysical therapyClinical Medicinebusiness[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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Oxidative stress in the oral cavity is driven by individualspecific bacterial communities

2018

The term “bacterial dysbiosis” is being used quite extensively in metagenomic studies, however, the identification of harmful bacteria often fails due to large overlap between the bacterial species found in healthy volunteers and patients. We hypothesized that the pathogenic oral bacteria are individual-specific and they correlate with oxidative stress markers in saliva which reflect the inflammatory processes in the oral cavity. Temporally direct and lagged correlations between the markers and bacterial taxa were computed individually for 26 volunteers who provided saliva samples during one month (21.2 ± 2.7 samples/volunteer, 551 samples in total). The volunteers’ microbiomes differed sig…

0301 basic medicineSalivaACID REACTING SUBSTANCES030106 microbiologyPhysiologyDiseasemedicine.disease_causeApplied Microbiology and BiotechnologyMicrobiologylcsh:Microbial ecologyArticle03 medical and health sciencesmedicineMicrobiomeGENE-EXPRESSIONTOTAL ANTIOXIDANT CAPACITYScience & TechnologyDENTAL-CARIESPLASMASTABILITYbiologybiology.organism_classificationmedicine.diseaseSALIVARY MARKERSSTREPTOCOCCUS-MUTANSStreptococcus mutansMICROBIOME030104 developmental biologyBiotechnology & Applied MicrobiologyMetagenomicslcsh:QR100-130Life Sciences & BiomedicineDysbiosisRESISTANCEBacteriaOxidative stressBiotechnology
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Mechanisms of astringency: Structural alteration of the oral mucosal pellicle by dietary tannins and protective effect of bPRPs

2018

International audience; The interaction of tannins with salivary proteins is involved in astringency. This paper focussed on saliva liningoral mucosae, the mucosal pellicle. Using a cell-based model, the impact of two dietary tannins (EgC and EgCG)on the mucosal pellicle structure and properties was investigated by microscopic techniques. The role of basicProline-Rich-Proteins (bPRPs) in protecting the mucosal pellicle was also evaluated.At low (0.05 mM) tannin concentration, below the sensory detection threshold, the distribution of salivarymucins MUC5B on cells remained unaffected. At 0.5 and 1 mM, MUC5B-tannin aggregates were observed andtheir size increased with tannin concentration and…

0301 basic medicineSalivaFrictionAstringencyMicroscopy Atomic ForceCatechinCell LineAnalytical ChemistryProtein Aggregates03 medical and health sciences0404 agricultural biotechnologyHumansTanninDental PellicleFood scienceSalivaAstringentsEgCGchemistry.chemical_classificationR146/MUC1 cells030109 nutrition & dietetics[PHYS.PHYS]Physics [physics]/Physics [physics]ChemistryAtomic force microscopyDetection thresholdSalivary mucins MUC5BMucinMouth Mucosa04 agricultural and veterinary sciencesGeneral MedicineMucin-5B040401 food scienceDietSalivary Proline-Rich ProteinsAtomic Force MicroscopyOn cellsMicroscopy Electron ScanningSalivary ProteinsIB5Scanning Electron MicroscopyTannins[SDV.AEN]Life Sciences [q-bio]/Food and NutritionFood Science
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Molecular chaperones in tumors of salivary glands.

2020

The salivary glands are key components of the mouth and play a central role in its physiology. Their importance may be appreciated considering their number, occurrence in pairs, and distribution in the mouth: two parotids, two submandibular, two sublingual, and many other small ones scattered throughout the mouth. They produce saliva, without which ingestion of non-liquid nutrients and speech would be practically impossible. Nevertheless, the physiology and pathology of salivary glands are poorly understood. For instance, tumors of salivary glands occur, and their incidence is on the rise, but their etiology and pathogenesis are virtually unknown, although some risk factors have been identi…

0301 basic medicineSalivaHistologyPhysiologyDifferential diagnosiBiologyBioinformaticsmedicine.disease_causePathogenesis03 medical and health sciencesstomatognathic systemmedicineHSPAnimalsHumansEndoplasmic Reticulum Chaperone BiPTumorsSalivary glandTumorigenesiChaperoning system030102 biochemistry & molecular biologySalivary glandCell BiologyGeneral MedicineSalivary Gland Neoplasms030104 developmental biologymedicine.anatomical_structureCell Transformation NeoplasticChaperone (protein)Etiologybiology.proteinMolecular chaperoneBiomarker (medicine)Disease SusceptibilityDifferential diagnosisCarcinogenesisMolecular ChaperonesJournal of molecular histology
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